Yang Xu^1,#, Yaqi Zhang^2,#, Meijiao Zhu³, Pengcheng Xue⁴, Siyu Ma¹, Di Yu¹, Liang Hu¹, Yuxi Zhang¹, Wei Peng¹, Jirong Qi¹, Xuyun Wen⁴, Ming Yang³, Xuming Mo^1,2,5,*

Congenital Heart Disease, Vol.20, No.5, pp. 559-570, 2025, DOI:10.32604/chd.2025.072242 - 30 November 2025

Abstract Background: The life-course management of children with tetralogy of Fallot (TOF) has focused on demonstrating brain structural alterations, developmental trajectories, and cognition-related changes that unfold over time. Methods: We introduce an magnetic resonance imaging (MRI) dataset comprising TOF children who underwent brain MRI scanning and cross-sectional neurocognitive follow-up. The dataset includes brain three-dimensional T1-weighted imaging (3D-T1WI), three-dimensional T2-weighted imaging (3D-T2WI), and neurodevelopmental evaluations using the Wechsler Preschool and Primary Scale of Intelligence–Fourth Edition (WPPSI-IV). Results: Thirty-one children with TOF (age range: 4–33 months; 18 males) were recruited and completed corrective surgery at the Children’s Hospital of Nanjing More >

Jiawei Shi^1,2,3,#, Zhen Wang^1,2,3,#, Ying Bai^1,2,3, Shiying Li^1,2,3, Xin Zhang^1,2,3, Tianshu Liu^1,2,3, Liu Hong^1,2,3, Li Cui^1,2,3, Yi Zhang^1,2,3, Jing Ma^1,2,3, Juanjuan Liu^1,2,3, Jing Zhang^1,2,3, Haiyan Cao^1,2,3,*, Jing Wang^1,2,3,*

Congenital Heart Disease, Vol.20, No.2, pp. 213-229, 2025, DOI:10.32604/chd.2025.064950 - 30 April 2025

Abstract Background: Tetralogy of Fallot (TOF), the predominant cyanotic congenital heart defect, arises from multifactorial gene-environment interactions disrupting cardiac developmental networks. This study investigated TOF-specific transcriptional alterations and identified high-confidence candidate genes. Methods: Based on GSE36761 transcriptome data, a weighted gene co-expression network analysis (WGCNA) and protein-protein interaction (PPI) network were conducted to identify TOF-related sub-network and Hub genes. The potential biological functions among these genes were revealed by enrichment analysis. Genetic, epigenetic and transcriptional alteration in the Hub genes were analyzed with leveraged public resources: a methylation dataset (GSE62629) and two single-cell datasets (EGAS00001003996 and GSE126128). Results:… More >

Jacob PL Ho¹, Carol WK Ng², Wilfred HS Wong³, Yiu-fai Cheung^1,3,*

Congenital Heart Disease, Vol.20, No.2, pp. 201-211, 2025, DOI:10.32604/chd.2025.063217 - 30 April 2025

Abstract Background: The role of cardiothoracic ratio (CTR) from the chest radiograph for assessment of ventricular enlargement and function in repaired tetralogy of Fallot (TOF) is conflicting. This study aimed to determine the associations between CTR and cardiac magnetic resonance (CMR)-derived ventricular volumes and indices of ventricular function in adolescents and young adults with repaired TOF. Methods: The CTR and CMR findings, performed within 12 months of each other, were reviewed in 76 patients aged 22.1 ± 6.4 years. Associations between CTR and CMR parameters including right (RV) and left ventricular (LV) volumes and ejection fraction were… More >

Edo Bedzra^1,*, Eli Contorno², Herra Javed², Amna Qasim³, James St. Louis⁴, Taufiek Konrad Rajab²

Congenital Heart Disease, Vol.19, No.6, pp. 541-562, 2024, DOI:10.32604/chd.2025.059788 - 27 January 2025

Abstract Since the first identification of Tetralogy of Fallot in 1671, consisting of a combination of anatomical defects including biventricular origin of the aorta, maligned ventricular septal defect, overriding aorta, and narrowing or atresia of the pulmonary outflow tract. The first successful operation consisted of a shunt between the left subclavian artery and pulmonary artery. Following this palliative procedure, complete repair is performed once the patient reaches indicative criteria. Since the first attempts at surgical palliation and repair, techniques and outcomes have improved drastically. Definitive repair of Tetralogy of Fallot consists of a multi-patch closure of More >

Hiroki Nagamine¹, Masaru Miura^1,*, Jun Maeda¹, Takumi Nishiki¹, Maasa Sato², Fumie Takechi³, Shigeru Tateno⁴, Tomoko Ishizu⁵, Yumi Shiina⁶, Ken Kato⁷, Hiroshi Ono⁸, Hiroyuki Yamagishi⁹, Koichiro Niwa⁶

Congenital Heart Disease, Vol.19, No.4, pp. 351-362, 2024, DOI:10.32604/chd.2024.051837 - 31 October 2024

Abstract Background: Aortic root dilatation occurs in adults with tetralogy of Fallot (TOF) after surgical repair, but the longitudinal changes are unclear. The main research aim is to determine the annual dilatation rate of aorta in adults with repaired TOF. Methods: The present, multicentric, prospective cohort study assessed the rate of aortic diameter change in adults aged 20 years or older with TOF, including pulmonary artery atresia, who underwent surgical repair. Clinical data, focusing on echocardiograms, were collected at three-year intervals from seven hospitals. Results: In total, 104 patients (58 males; median age: 29 years) were enrolled.… More > Graphic Abstract

Aisa Zulibiya^1,2,#, Jing Wen^3,#, Huiqing Yu^3,#, Xiaoming Chen³, Lei Xu³, Xiao Ma^1,2, Baojian Zhang^1,2,*

Congenital Heart Disease, Vol.18, No.6, pp. 611-625, 2023, DOI:10.32604/chd.2023.047689 - 19 January 2024

Abstract Background: Tetralogy of Fallot (TOF) is a very common cyanotic congenital heart disease. Endothelial-to-mesenchymal transition (EndoMT) is recognized as a physiological mechanism involved in embryonic heart development and endothelial formation. However, there is still a gap in the reports related to the mechanism of EndoMT development in TOF. Methods: First, transcriptomic data of single cell nuclei of TOF and Donor were obtained based on the Gene Expression Omnibus (GEO) database, and the data were normalized and clustered by dimensionality reduction using the Seurat package. Subsequently, differentially expressed genes (DEGs) between TOF and Donor were screened… More >

Dian Kesumarini^1,2, Yunita Widyastuti³, Cindy Elfira Boom¹, Lucia Kris Dinarti^4,*

Congenital Heart Disease, Vol.18, No.6, pp. 671-678, 2023, DOI:10.32604/chd.2023.044746 - 19 January 2024

Abstract Tetralogy of Fallot (TOF) with total anomalous pulmonary vein connections (TAPVC) is a rare type of complex congenital heart disease among all TOF cases. Co-presentation of major aortopulmonary collateral arteries (MAPCAs) compensates for the lack of central pulmonary blood flow and decreases the severity of right-to-left shunting in TOF. We present a case of a 2-year-old child with complex diagnoses of TOF, TAPVC, a large secundum atrial septal defect (ASD), and intraoperatively identified MAPCAs. She underwent surgery to repair the TAPVC, valve-sparing reconstruction of the right ventricular outflow tract, interventricular defect closure, and the creation… More >

Aya Miyazaki^1,2,*, Hideki Uemura², Yasuyo Takeuchi³, Junya Tomida⁴, Yasuo Ono¹, Yoshifumi Fujimoto¹, Norie Mitsushita¹, Akio Ikai¹

Congenital Heart Disease, Vol.17, No.6, pp. 647-652, 2022, DOI:10.32604/chd.2022.021837 - 11 October 2022

Abstract Appropriate heart rate in a failing pulmonary ventricle remains unknown, particularly in congenital heart disease with unique hemodynamics. A 71-year-old male with repaired tetralogy of Fallot and a pacemaker for a sinus node dysfunction suffered from heart failure symptoms with preserved left ventricular function. Simply changing the pacemaker’s lower rate from 60 to 75 bpm, New York Heart Association classification improved from III to II, and hemodynamic parameters drastically improved. We regarded this case as informative. Appropriate heart rate could be higher in congenital patients with failing right and non-failing left ventricles than in adults More > Graphic Abstract

Elena Panaioli^1,2,3,#, Duarte Martins^1,4,#, Marc Antoine Isorni⁵, Diala Khraiche¹, Antoine Legendre¹, Nathalie Boddaert⁶, Damien Bonnet¹, Filippo Crea^2,3, Francesca Raimondi^1,6,7,8,*

Congenital Heart Disease, Vol.17, No.2, pp. 117-128, 2022, DOI:10.32604/chd.2022.018779 - 26 January 2022

Abstract Background: Repaired Tetralogy of Fallot (rTOF) patients may have residual lesions such as main (MPA) and branch pulmonary artery stenosis (BPAS). While MPA stenosis is well studied, few data are available on BPAS in rTOF. We aimed to describe pulmonary perfusion in a large paediatric cohort of rTOF and its impact on right ventricular and outflow-tract hemodynamics using 4D flow CMR. Methods: 130 consecutive patients (mean age at CMR 14.3 ± 4.6 years) were retrospectively reviewed. 96 patients had transannular patch without valve preservation while 34 patients had conserved annulus or valved conduit. A pulmonary blood flow ratio… More > Graphic Abstract

Hong Liu^1,#,*, Luyao Ma^1,#, Jinghang Li^1,#, Bingqi Sun², Siqiang Zheng³, Yongfeng Shao^1,*

Congenital Heart Disease, Vol.16, No.5, pp. 443-455, 2021, DOI:10.32604/CHD.2021.015588 - 03 June 2021

Abstract Background: This study evaluated differential inflammatory response to cardiopulmonary bypass reoxygenation in tetralogy of Fallot repair. Methods: We performed a retrospective study at a cardiovascular center from 2012 to 2018, including 500 patients aged 1 week–18 years who received complete repair of tetralogy of Fallot. Patients were grouped according to tertiles of preoperative RVOT gradient on echocardiography into mild, moderate, and severe stenosis. We measured the highest perfusate oxygenation (PpO2) during aortic occlusion as independent variable. Primary outcome was systemic inflammatory response syndrome (SIRS) within 7 days postoperatively or the time of death or discharge. Results: Overall, rate… More >